| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Interstitial pneumonitis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hurler syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
Click to view in NCBI Gene